NHS Sickle Cell and Thalassaemia Screening Programme

1. NHS Sickle Cell and Thalassaemia Screening Programme Allison Streetly Programme Director Stirling 2009

2. English national antenatal & newborn programmes

3. English regions

4. Thank-you to all those involved, known and not known, who have supported the implementation of the programme and developments thus far…a long journey to acceptance

5. Format of the talk • Introduction and context in England • What we have done so far • What the lessons are for others in UK & Europe

6. 1. Introduction • Genetic Context of UK Roman and Norman invasions Maritime history Spanish Armada Slaves in the UK 20 C Migration - Cyprus,Caribbean, India and Pakistan for workforce 21 C - Econonic migrants - Africa and E Europe

7. 1. Introduction Evidence base to support screening - 2 HTAs support “selective” newborn and antenatal screening • NSC universal support for newborn screening late1999 • NSC had not considered antenatal screening (informally suggested thal screening & not Sickle) 2000 “unexpected” NHS Plan commitment Lobbying for c.20 years prior to this (inc SMAC report and various other reports from early 80s.)

8. the end is the beginning by 2004 “a new national linked antenatal and neonatal screening programme for haemoglobinopathy and sickle cell disease” ….as part of expansion of women and childrens’ screening programmes NHS Plan Chapter 13 (England)

9. 1. Introduction • UK countries England - screening implemented, plans for care Scotland - plan for screening & care Wales - antenatal screening Northern Ireland - plan for newborn sc

10. Ethical frameworks • To offer informed choice need to include a choice to have an affected baby • This means ensuring the services to support the patients are available • In UK we can “afford this choice” in less rich countries the cost issues drive decisions more acutely. • In the UK the expectation for affected infants is greater than other countries • Respect needed for each persons choice

11. England - Estimates of need: • Pregnant carriers each year = 12,500 • Couples at risk = 1,200 (250 PNDS pa) • Affected conceptions = 250-300 HBOs (60 thal rest sickle) Sickle cell patients = 12,500 Thalassaemia patients = 800

12. 2. What we did/do Policy – development and endorsement Implementation – plan, plan, plan - expected numbers disease & carriers • standards & protocols for LINKED programme • funding - laboratory services in place and counselling • communication • training and education Quality Assurance – data and IT systems Evaluation – ongoing - lessons

13. What we have done so far Newborn screening for sickle cell disease - Fully implemented universal programme in England - 2006 • Scotland plans to implement by 2011 (pilot of the family origin questionnaire as a screening tool) • Wales is making a case – tbc - Northern Ireland is plans to introduce by 2010/11 tbc

14. What we have done so far Newborn screening for sickle cell disease 350 affected babies a year = 1:2000 All regions have cases Approximately doubling affected cases identified including in areas with no services 9500 carriers – more widely distributed and in the indigenous population Rapidly audits the antenatal programme (for S, C, D & E).

15. Newborn Carrier* rates by ethnic category**: 2005 to March 2007 Rate per 1000 screened babies White British • 1.8 (1.75-1.95) White Irish • 3.0 (0.61-5.46) Black African • 144.3 (141.33-148.14) • HARDY WEINBERG LAW IS USEFUL

16. What we have done so far Antenatal screening for sickle cell and thalassaemia - Completed implementation in England – autumn 2008 • Scotland – active planning • Wales has a programme – is aligning with England Family Origin Questionnaire - Northern Ireland considers this too sensitive for religious reasons

17. England - update • Antenatal screening • High Prevalence – mostly already doing something – alignment more challenging • Low prevalence – successful model of implementation – traffic light scheme to ensure all processes in place before programme approval to go live – report due

18. Implementation update • Laboratory surveys – Scotland has repeated • National Institute of Clinical Excellence - endorsement 8-10 weeks ideal for antenatal testing recommends pre-conceptual counselling and testing using FOQ (preconception care at policy stage)

20. Policy for antenatal screening • All to offer an antenatal screening programme and thalassaemia screening withwomen being informed about this. • High prevalence trusts to offer enhanced laboratory screening for all women for haemoglobin variants (sickle foetal prevalence est >1.5/10,000) • Low prevalence trusts – phased implementation of screening using a family origin question (evaluation in seven low prevalence sites – ETHNOS report).

22. FOQ

23. Data suggests problems with informed choice Based on newborn data we expect: 1300 at risk couples 600 couples to opt for prenatal diagnosis But uptake of PND is: 245 in 2004 320 in 2007/08 (26 % by 11 weeks) Implication: screening is offered too late for PND to be real option so impeding choice – especially in some minority groups – and % by 11 weeks unchanged although number of pnds up

25. 3. Lessons • Difficult without national level support • Clear aims and objectives essential • Plan implementation – resources, timescale, standards and communication • Allow time for planning, policy and standards • Understand epidemiology – planning for extra • Sensitive to the relevant communities – e.g. language (control and prevention are sensitive words) and wider context of patient care (ethical framework) which is very important

26. Lessons - continued • Ensure mainstreaming (see over) • Technical aspects to be attended to – UK has good experience and a good model to offer • Information and IT – outstanding problem in England – hinder LINKAGE • Maternity care needs to link to primary care and offer testing early enough (8-10 weeks problem) • Experts advise but are not expert impementers of screening services • Care networks very important

27. Lessons for others c’td Mainstreaming Newborn screening – part of existing bloodspot programme Antenatal screening – part of routine antenatal care Preconceptual testing – as part of whole package – including issues of consanguinity in general Care Networks – specialist care backed up by DGH and community care

28. Community Engagement essential

29. Community Engagement • ministerially appointed Lay Chair • links to national voluntary sector & users • professional education – preparation • developing community engagement • work with regional and national media • lobbying in Westminster for national clinical network for haemoglobinopathies – inequalities and inequities across England

31. Vision for the future • margins to mainstream • common single gene disorders- primary care engagement • Linkage across whole lifecycle better • cultural and linguistic sensitivities better addressed • improved levels of awareness and understanding by public and professionals • Screening linked with clinical network

32. Vision for the future • Whole programme is delivered as an integrated whole from the patients perspective • Professionals find satisfaction and reward in delivering a high and improving quality service • Public and populations affected find the programme acceptable and value for money – engagement • Margins to the mainstream – diversity issues addressed

33. Future developments • Continue journey & report results • Working with communities, users and voluntary sector – “community engagement” • developing the best screening programme possible linked to services for those with these conditions • a world leader – first linked programme • WHO resolution and support to Africa

34. Thank-you for inviting us • Hope this has been helpful • good luck on your journey • develop your timetable to focus the work • Share plans and use our experience

36. Materials • Pre-screening leaflet redone – part of antenatal pack produced by NSC • Newborn carrier leaflets – available • Translations – 28 Languages leaflets and/ or audiotapes where relevant • PEGASUS - FLP materials (http://www.pegasus.nhs.uk/) • PH materials (http://www.pegasus.nhs.uk/phnpolicy/menu.htm) • specialist counselling courses

37. Materials for professionals Most available on Programme website: www.sct.screening.nhs.uk/publications.htm • Laboratory handbook • UK Forum Clinical guidelines • Re-issue of external authored parent handbook for SCD (thalassaemia one due) • Programme Standards and Guidelines • ROCR return

39. Contact details • Allison Streetly • haemscreening@kcl.ac.uk • Tel: +44 20 7848 6634 • Fax: +44 20 7848 6620 • http://sct.screening.nhs.uk